Article
Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes.
American journal of medical genetics. Part A - 15 Oct 2004
Katz L A, Schultz R E, Semina E V, Torfs C P, Krahn K N, Murray J C
Abstract excerpt
Omphalocele is a congenital anomaly with substantial morbidity. Rieger syndrome, an autosomal dominant disorder, is characterized by craniofacial abnormalities and abdominal wall defects. PITX2 mutations are etiologic in >40% of cases of Rieger syndrome. We demonstrate that the birth prevalence of omphalocele is significantly higher in Rieger syndrome than in the general population, with omphaloceles found in...
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